Canonical Allele Identifier: CA16037298

Gene: APC

Linked Data

• ClinVar Variation Id: 927449
• ClinVar RCV Id: RCV001190756 ; RCV003770145
• dbSNP Id: rs1766450249
• gnomAD v4: 5-112842926-C-G
• MyVariant Identifiers: chr5:g.112178623C>G (hg19) ; chr5:g.112842926C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842926C>G , CM000667.2:g.112842926C>G	GRCh38
NC_000005.9:g.112178623C>G , CM000667.1:g.112178623C>G	GRCh37
NC_000005.8:g.112206522C>G	NCBI36
NG_008481.4:g.155406C>G , LRG_130:g.155406C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.7386C>G	ENSP00000473355.2:p.Ile2462Met
ENST00000505350.2:c.*7338C>G	ENSP00000481752.1:n.*7338C>G
ENST00000507379.6:c.7278C>G	ENSP00000423224.2:p.Ile2426Met
ENST00000509732.6:c.7332C>G	ENSP00000426541.2:p.Ile2444Met
ENST00000512211.7:c.7332C>G	ENSP00000423828.3:p.Ile2444Met
ENST00000257430.9:c.7332C>G MANE Select	ENSP00000257430.4:p.Ile2444Met
ENST00000257430.8:c.7332C>G	ENSP00000257430.4:p.Ile2444Met
ENST00000508376.6:c.7332C>G	ENSP00000427089.2:p.Ile2444Met
ENST00000520401.1:c.231-13723C>G
NM_000038.5:c.7332C>G	NP_000029.2:p.Ile2444Met
NM_001127510.2:c.7332C>G	NP_001120982.1:p.Ile2444Met
NM_001127511.2:c.7278C>G	NP_001120983.2:p.Ile2426Met
NM_001354895.1:c.7332C>G	NP_001341824.1:p.Ile2444Met
NM_001354896.1:c.7386C>G	NP_001341825.1:p.Ile2462Met
NM_001354897.1:c.7362C>G	NP_001341826.1:p.Ile2454Met
NM_001354898.1:c.7257C>G	NP_001341827.1:p.Ile2419Met
NM_001354899.1:c.7248C>G	NP_001341828.1:p.Ile2416Met
NM_001354900.1:c.7209C>G	NP_001341829.1:p.Ile2403Met
NM_001354901.1:c.7155C>G	NP_001341830.1:p.Ile2385Met
NM_001354902.1:c.7059C>G	NP_001341831.1:p.Ile2353Met
NM_001354903.1:c.7029C>G	NP_001341832.1:p.Ile2343Met
NM_001354904.1:c.6954C>G	NP_001341833.1:p.Ile2318Met
NM_001354905.1:c.6852C>G	NP_001341834.1:p.Ile2284Met
NM_001354906.1:c.6483C>G	NP_001341835.1:p.Ile2161Met
NM_000038.6:c.7332C>G MANE Select	NP_000029.2:p.Ile2444Met
NM_001127510.3:c.7332C>G	NP_001120982.1:p.Ile2444Met
NM_001127511.3:c.7278C>G	NP_001120983.2:p.Ile2426Met
NM_001354895.2:c.7332C>G	NP_001341824.1:p.Ile2444Met
NM_001354896.2:c.7386C>G	NP_001341825.1:p.Ile2462Met
NM_001354897.2:c.7362C>G	NP_001341826.1:p.Ile2454Met
NM_001354898.2:c.7257C>G	NP_001341827.1:p.Ile2419Met
NM_001354899.2:c.7248C>G	NP_001341828.1:p.Ile2416Met
NM_001354900.2:c.7209C>G	NP_001341829.1:p.Ile2403Met
NM_001354901.2:c.7155C>G	NP_001341830.1:p.Ile2385Met
NM_001354902.2:c.7059C>G	NP_001341831.1:p.Ile2353Met
NM_001354903.2:c.7029C>G	NP_001341832.1:p.Ile2343Met
NM_001354904.2:c.6954C>G	NP_001341833.1:p.Ile2318Met
NM_001354905.2:c.6852C>G	NP_001341834.1:p.Ile2284Met
NM_001354906.2:c.6483C>G	NP_001341835.1:p.Ile2161Met